Targeted DNA-seq and RNA-seq of Reference Samples with Short-read and Long-read Sequencing

Area of Science:

• Genomics
• Molecular Biology
• Bioinformatics

Background:

• Next-generation sequencing (NGS) has transformed genomic research and personalized medicine.
• Whole genome/transcriptome sequencing (WGS/WTS) and targeted sequencing offer different advantages.
• Long-read sequencing addresses limitations of short-read sequencing in complex genomic regions.

Purpose of the Study:

• To comprehensively analyze and compare various NGS technologies, targeting protocols, and library preparation methods.
• To establish a reference point for assessing current sequencing technologies.
• To facilitate informed decision-making in genomic research and precision medicine.

Main Methods:

• Sequencing of DNA and RNA libraries from reference samples.
• Utilized various targeted DNA and RNA panels.
• Employed both short-read and long-read sequencing platforms for whole transcriptome sequencing.

Main Results:

• Generated an expanded profiling landscape of sequencing technologies.
• Enabled detailed analysis of sequencing performance across different methods.
• Highlighted strengths and limitations of each approach for genomic and transcriptomic variation detection.

Conclusions:

• Understanding the nuances of different NGS technologies is crucial for clinical translation.
• The study provides a valuable reference for selecting appropriate sequencing strategies.
• Informed technology choices will accelerate progress in precision medicine and complex disease research.